Canonical Allele Identifier: CA2078628351

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337952_23337954delinsAGT , CM000675.2:g.23337952_23337954delinsAGT	GRCh38
NC_000013.10:g.23912091_23912093delinsAGT , CM000675.1:g.23912091_23912093delinsAGT	GRCh37
NC_000013.9:g.22810091_22810093delinsAGT	NCBI36
NG_012342.1:g.100749_100751delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15831_2185+15833delinsACT	ENSP00000508399.1:n.2185+15831_2185+15833delinsACT
ENST00000682944.1:c.5949_5951delinsACT	ENSP00000507173.1:p.Glu1983=
ENST00000683210.1:c.2185+15831_2185+15833delinsACT	ENSP00000506739.1:n.2185+15831_2185+15833delinsACT
ENST00000683270.1:c.5913_5915delinsACT	ENSP00000507624.1:p.Glu1971=
ENST00000683367.1:c.2177-8470_2177-8468delinsACT	ENSP00000507780.1:n.2177-8470_2177-8468delinsACT
ENST00000683489.1:c.2291+3631_2291+3633delinsACT	ENSP00000508403.1:n.2291+3631_2291+3633delinsACT
ENST00000683680.1:c.2318+3631_2318+3633delinsACT	ENSP00000507223.1:n.2318+3631_2318+3633delinsACT
ENST00000684163.1:c.2204-8470_2204-8468delinsACT	ENSP00000508262.1:n.2204-8470_2204-8468delinsACT
ENST00000684196.1:n.4543-8470_4543-8468delinsACT
ENST00000684325.1:c.2185+15831_2185+15833delinsACT	ENSP00000508121.1:n.2185+15831_2185+15833delinsACT
ENST00000684385.1:c.2221-8470_2221-8468delinsACT	ENSP00000507855.1:n.2221-8470_2221-8468delinsACT
ENST00000684497.1:c.2186-15310_2186-15308delinsACT	ENSP00000507057.1:n.2186-15310_2186-15308delinsACT
ENST00000382292.9:c.5922_5924delinsACT MANE Select	ENSP00000371729.3:p.Glu1974=
ENST00000423156.2:c.2186-8470_2186-8468delinsACT	ENSP00000390925.2:n.2186-8470_2186-8468delinsACT
ENST00000455470.6:c.2431+3491_2431+3493delinsACT	ENSP00000406565.2:n.2431+3491_2431+3493delinsACT
ENST00000382292.7:c.5922_5924delinsACT	ENSP00000371729.3:p.Glu1974=
ENST00000382298.7:c.5922_5924delinsACT	ENSP00000371735.3:p.Glu1974=
ENST00000402364.1:c.3672_3674delinsACT	ENSP00000385844.1:p.Glu1224=
ENST00000423156.1:c.1058-8470_1058-8468delinsACT	ENSP00000390925.1:n.1058-8470_1058-8468delinsACT
ENST00000455470.5:c.2129+3491_2129+3493delinsACT
NM_001278055.1:c.5481_5483delinsACT	NP_001264984.1:p.Glu1827=
NM_014363.5:c.5922_5924delinsACT	NP_055178.3:p.Glu1974=
XM_005266338.1:c.5949_5951delinsACT	XP_005266395.1:p.Glu1983=
XM_011535038.1:c.5973_5975delinsACT	XP_011533340.1:p.Glu1991=
XM_011535039.1:c.5940_5942delinsACT	XP_011533341.1:p.Glu1980=
XM_005266338.2:c.5949_5951delinsACT	XP_005266395.1:p.Glu1983=
XM_011535039.2:c.5940_5942delinsACT	XP_011533341.1:p.Glu1980=
XM_017020539.1:c.5913_5915delinsACT	XP_016876028.1:p.Glu1971=
XM_024449337.1:c.5949_5951delinsACT	XP_024305105.1:p.Glu1983=
NM_014363.6:c.5922_5924delinsACT MANE Select	NP_055178.3:p.Glu1974=
NM_001278055.2:c.5481_5483delinsACT	NP_001264984.1:p.Glu1827=